Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = 1.51, P = 3.99 × 10(-10)) in the ALDH1A2 gene and at 1p31 (frequency of 0.02%, OR = 50.6, P = 9.8 × 10(-10)). Among the carriers of the variant at 1p31 is a family with several members in whom the risk allele segregates with osteoarthritis. The variants within the ALDH1A2 gene were confirmed in replication sets from The Netherlands and the UK, yielding an overall association of OR = 1.46 and P = 1.1 × 10(-11) (rs3204689).

Original publication

DOI

10.1038/ng.2957

Type

Journal article

Journal

Nature genetics

Publication Date

05/2014

Volume

46

Pages

498 - 502

Addresses

deCODE Genetics/Amgen, Reykjavik, Iceland.

Keywords

TREAT-OA Consortium, arcOGEN Consortium, Hand, Cartilage, Chromosomes, Human, Pair 1, Humans, Osteoarthritis, Genetic Predisposition to Disease, Gene Expression Profiling, Sequence Analysis, DNA, Computational Biology, Base Sequence, Genotype, Molecular Sequence Data, Iceland, Netherlands, Retinal Dehydrogenase, Genetic Variation, Genetic Association Studies, United Kingdom